Neuropediatrics 2001; 32(6): 295-298
DOI: 10.1055/s-2001-20404
Original Article

Georg Thieme Verlag Stuttgart · New York

Gender-Specific Occurrence of West Syndrome in Patients with Pyruvate Dehydrogenase Complex Deficiency

E. Naito, M. Ito, I. Yokota, T. Saijo, Y. Ogawa, K. Shinahara, Y. Kuroda
  • Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima, Japan
Further Information

Publication History

Publication Date:
27 February 2002 (online)

Abstract

Pyruvate dehydrogenase complex (PDHC) deficiency, a major cause of congenital lactic acidemia in children, usually is complicated by seizures, and, in some patients, West syndrome has occurred. We diagnosed 60 patients with PDHC deficiency, including equal numbers of affected males and females. We studied the clinical features in 10 patients with West syndrome caused by PDHC deficiency, and examined the relation to the mutation of the E1α subunit, representing the great majority of PDHC deficiencies. Among 30 boys and 30 girls with PDHC deficiency, 1 boy and 9 girls had West syndrome, even though overall West syndrome shows a slight male preponderance. Therefore, West syndrome associated with PDHC deficiency occurred in 9 of 30 female patients (33 %), but in only 1 of 30 male patients (3 %). The frequency of West syndrome in patients with PDHC deficiency was significantly higher in females than in males (p < 0.05). Lactate concentrations in blood and CSF should be measured in female patients with West syndrome as a screening test for PDHC deficiency, because of gender-specific occurrence of West syndrome caused by PDHC deficiency.

West syndrome · Congenital lactic acidemia · Pyruvate dehydrogenase complex deficiency · E1α subunit · Sodium dichloroacetate

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M.D. Etsuo Naito

Department of Pediatrics, School of Medicine, University of Tokushima

Kuramoto Cho 3

Tokushima, 770-8503

Japan

Email: enaito@clin.med.tokushima-u.ac.jp

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